A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3553799



Internal ID22422673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872718..50872718hg38UCSC Ensembl
chr12:51266501..51266501hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443994
SamplesHG00733
Known GenesTMPRSS12
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3553799
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer